A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8695452



Internal ID13353818
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:102663469..102671667hg38UCSC Ensembl
Innerchr7:102664469..102670667hg38UCSC Ensembl
Outerchr7:102662469..102672667hg38UCSC Ensembl
chr7:102303916..102312114hg19UCSC Ensembl
Innerchr7:102304916..102311114hg19UCSC Ensembl
Outerchr7:102302916..102313114hg19UCSC Ensembl
chr7:102091152..102099350hg18UCSC Ensembl
Innerchr7:102092152..102098350hg18UCSC Ensembl
Outerchr7:102090152..102100350hg18UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg388199
hg198199
hg188199
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv3328415
Supporting Variants
SamplesNA12891
Known GenesPOLR2J2, POLR2J3
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8695452
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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